Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
It is shown that mutations within the profilin 1 (PFN1) gene can cause FALS, and cytoskeletal pathway alterations contribute to ALS pathogenesis.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
A meta-analysis of six ulcerative colitis genome-wide association study datasets found many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1.
Multiple common variants for celiac disease influencing immune gene expression
Variants from 13 new regions reached genome-wide significance and most contain genes with immune functions, with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
Aging effects on DNA methylation modules in human brain and blood tissue
It is concluded that blood is a promising surrogate for brain tissue when studying the effects of age on DNA methylation profiles, and a robustly defined age-related co-methylation module that is present in multiple human tissues, including blood and brain is revealed.
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains…
Protein aggregation in amyotrophic lateral sclerosis
- A. Blokhuis, Ewout J. N. Groen, M. Koppers, L. H. van den Berg, R. Pasterkamp
- BiologyActa Neuropathologica
- 15 May 2013
Recent advances in the understanding of the molecular make-up, formation, and mechanism-of-action of protein aggregates in ALS are discussed.
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA
Natural human genetic variation is relied upon to identify effects of variants on trans-gene expression (expression quantitative trait locus mapping, eQTL) in whole peripheral blood from 1,469 unrelated individuals, supporting the concept that the effects of these SNPs on expression seems to be much less multifactorial.
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
Findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP 3 variants in ALS.
Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
- E. Verstraete, J. Veldink, J. Hendrikse, H. J. Schelhaas, M. P. van den Heuvel, L. H. van den Berg
- Medicine, BiologyJournal of Neurology Neurosurgery & Psychiatry
- 29 September 2011
Cognitive thinning of the primary motor cortex might be a diagnostic marker for upper motor neuron degeneration in ALS and relative thinning in temporal regions was associated with a rapidly progressive disease course.